Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe.
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IMAGE: Sergi Beltran and Leslie Matalonga pictured in front of a supercomputer and servers that hosts the RD-Connect GPAP platform. The platform is located at the CNAG-CRG facilities in the Parc. view more
Credit: Centro Nacional de Análisis Genómico (CNAG-CRG)
Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. The findings are published today in a series of six papers in the
European Journal of Human Genetics.
In the main publication, an international consortium, known as Solve-RD, explains how the periodic reanalysis of genomic and phenotypic information from people living with a rare disease can boost the chance of diagnosis when combined with data sharing across European borders on a massive scale. Using this new approach, a preliminary reanalysis of data from 8,393 individuals resulted in 255 new diagnoses, some with atypical manifestations of kno